Journal of Translational Internal Medicine最新文献

{"title":"Erratum to \"WWP2 protects against sepsis-induced cardiac injury through inhibiting cardiomyocyte ferroptosis\".","authors":"Zhi Li, Boquan Wu, Jie Chen, Ning Ye, Rui Ma, Chunyu Song, Yingxian Sun, Xingang Zhang, Guozhe Sun","doi":"10.1515/jtim-2024-0024","DOIUrl":"https://doi.org/10.1515/jtim-2024-0024","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.2478/jtim-2024-0004.].</p>","PeriodicalId":51339,"journal":{"name":"Journal of Translational Internal Medicine","volume":"12 5","pages":"530"},"PeriodicalIF":4.7,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11538897/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142606569","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prognostic prediction of m6A and ferroptosis-associated lncRNAs in liver hepatocellular carcinoma.","authors":"Yuchen Gao, Jingxiao Li, Mingyue Ma, Wenting Fu, Lin Ma, Yi Sui, Yu Wang","doi":"10.1515/jtim-2024-0023","DOIUrl":"https://doi.org/10.1515/jtim-2024-0023","url":null,"abstract":"","PeriodicalId":51339,"journal":{"name":"Journal of Translational Internal Medicine","volume":"12 5","pages":"526-529"},"PeriodicalIF":4.7,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11538885/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142606866","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Histological transformation in lung adenocarcinoma: Insights of mechanisms and therapeutic windows.","authors":"Nuopei Tan, Yan Li, Jianming Ying, Wanqing Chen","doi":"10.1515/jtim-2024-0019","DOIUrl":"https://doi.org/10.1515/jtim-2024-0019","url":null,"abstract":"<p><p>Histological transformation from lung adenocarcinoma (ADC) to small cell lung carcinoma (SCLC), large cell neuroendocrine carcinoma (LCNEC), squamous cell carcinoma (SCC), and sarcomatoid carcinoma (PSC) after targeted therapies is recognized as a mechanism of resistance in ADC treatments. Patients with transformed lung cancer typically experience a poor prognosis and short survival time. However, effective treatment options for these patients are currently lacking. Therefore, understanding the mechanisms underlying histological transformation is crucial for the development of effective therapies. Hypotheses including intratumoral heterogeneity, cancer stem cells, and alteration of suppressor genes have been proposed to explain the mechanism of histological transformation. In this review, we provide a comprehensive overview of the known molecular features and signaling pathways of transformed tumors, and summarized potential therapies based on previous findings.</p>","PeriodicalId":51339,"journal":{"name":"Journal of Translational Internal Medicine","volume":"12 5","pages":"452-465"},"PeriodicalIF":4.7,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11538883/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142606722","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exosomes derived from Umbilical cord mesenchymal stem cell promote hair regrowth in C57BL6 mice through upregulation of the RAS/ERK signaling pathway.","authors":"Yongcui Mao, Pinyan Liu, Jiayun Wei, Ye Xie, Qiuxia Zheng, Xuekai Hu, Jia Yao, Wenbo Meng","doi":"10.1515/jtim-2024-0012","DOIUrl":"https://doi.org/10.1515/jtim-2024-0012","url":null,"abstract":"<p><strong>Background and objectives: </strong>Androgenetic alopecia is one of the common types of hair loss and has become a medical and social problem due to its increasingly young onset. Existing therapies, although effective, have serious side effects and therefore better treatments need to be sought. The aim of this study was to evaluate the efficacy of umbilical cord mesenchymal stem cell-derived exosomes in the treatment of androgenetic alopecia and to investigate the mechanism of exosome regulation of hair growth.</p><p><strong>Methods: </strong>First, we randomly divided 20 C57BL/6J mice into blank group, model group, positive control group and exosomal hydrogel group, and mice were treated with hair removal on the back. The mice were injected intraperitoneally with dihydrotestosterone solution except for the blank group. At the end of the experiment, new hairs were collected and the differences in length, diameter and number of hair follicles were compared among the groups; the histopathological changes of hair follicles were observed by HE staining; the expression of androgen receptor mRNA and protein in skin tissues were compared; and the skin tissues were analyzed by real-time PCR, western blotting, immunofluorescence staining and transcriptome sequencing. Finally, the results of transcriptome sequencing experiments were verified by real-time PCR, western blotting and other techniques for the corresponding genes and proteins.</p><p><strong>Results: </strong>Compared with the blank group, mice in the model group had shorter hair length and reduced hair diameter, and pathological observation showed that the total number of hair follicles was significantly reduced and the hair follicles were miniaturized; compared with the model group, mice in the positive control and exosome groups had longer hair length, larger hair diameter and more hair follicles; the androgen receptor mRNA content and protein expression in the skin tissue of mice in the model group were significantly higher than those in the blank group, and the protein expression in the exosome gel group was lower than that in the model group. Similarly, compared with the model group, the expression of stemness-related proteins K15 and CD200 in the skin tissues of mice in the exosome group increased, and the expression of PCNA, a protein related to cell proliferation, increased. The KEGG data showed that the differential genes were mainly enriched in the RAS/ERK pathway.</p><p><strong>Conclusions: </strong>In this study, we demonstrated the therapeutic effect of umbilical cord MSC-derived exosomes on androgenetic alopecia and verified that exosomes regulate hair follicle stem cell stemness through the RAS/ERK pathway to promote hair proliferation and thus hair growth in mice with androgenetic alopecia, providing a potential therapeutic strategy for androgenetic alopecia.</p>","PeriodicalId":51339,"journal":{"name":"Journal of Translational Internal Medicine","volume":"12 5","pages":"478-494"},"PeriodicalIF":4.7,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11538887/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142606706","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gastroesophageal reflux disease influences blood pressure components, lipid profile and cardiovascular diseases: Evidence from a Mendelian randomization study.","authors":"Qiang Wu, Changjing He, Wanzhong Huang, Chaoqun Song, Xin Hao, Qing Zeng, Dazhi Lan, Qiang Su","doi":"10.1515/jtim-2024-0017","DOIUrl":"https://doi.org/10.1515/jtim-2024-0017","url":null,"abstract":"<p><strong>Background: </strong>Gastroesophageal reflux disease (GERD) is a prevalent gastrointestinal disorder associated with a range of cardiovascular and metabolic complications. However, the relationship between GERD and blood pressure components, lipid profile, and cardiovascular diseases remains unclear.</p><p><strong>Methods: </strong>Leveraging genetic variants associated with GERD as instrumental variables, we performed this Mendelian randomization (MR) analyses. Blood pressure components, lipid profile parameters, as well as cardiovascular diseases were considered as outcomes. Furthermore, we conducted reverse MR analysis to explore the association of these factors with the risk of GERD.</p><p><strong>Results: </strong>Our MR analysis discovered a potential causal influence of GERD on blood pressure components, with genetically predicted GERD positively associated with systolic blood pressure (β = 0.053, <i>P</i> = 0.036), diastolic blood pressure (β = 0.100, <i>P</i> < 0.001), and mean arterial pressure (β = 0.106, <i>P</i> < 0.001). Additionally, genetically predicted GERD showed a significant impact on lipid profile, leading to increased genetically predicted levels of low-density lipoprotein (LDL) cholesterol (β = 0.093, <i>P</i> < 0.001), and triglycerides (β = 0.153, <i>P</i> < 0.001), while having a negative effect on high-density lipoprotein (HDL) cholesterol (β = -0.115, <i>P</i> = 0.002). Furthermore, our study indicated a noteworthy causal association between genetically predicted GERD and increased risk of myocardial infarction [odds ratio (OR) = 1.272, <i>P</i> = 0.019)] and hypertension (OR = 1.357, <i>P</i> < 0.001). No significant association was found between GERD and pulse pressure, total cholesterol, heart failure, and atrial fibrillation (<i>P</i> > 0.05). Reverse MR analysis indicates that blood pressure components, lipid profile, and cardiovascular diseases do not lead to an increased risk of GERD (all <i>P</i> > 0.05). Furthermore, mediation MR analysis reveals that LDL cholesterol (proportion mediated: 19.99%, 95% CI: 4.49% to 35.50%), HDL cholesterol (proportion mediated: 11.71%, 95% CI: 5.23% to 18.19%), and hypertension (proportion mediated: 35.09%, 95% CI: 24.66% to 45.53%) mediated the effect of GERD on myocardial infarction, while other factors did not participate in this pathway.</p><p><strong>Conclusions: </strong>This MR study provides evidence supporting a causal relationship between GERD and alterations in blood pressure components, lipid profile, and increased risk of cardiovascular diseases.</p>","PeriodicalId":51339,"journal":{"name":"Journal of Translational Internal Medicine","volume":"12 5","pages":"510-525"},"PeriodicalIF":4.7,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11538884/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142606711","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Inetetamab for injection in combination with vinorelbine weekly or every three weeks in HER2-positive metastatic breast cancer: A multicenter, randomized, phase II clinical trial.","authors":"Xiying Shao, Ning Xie, Zhanhong Chen, Xinshuai Wang, Wenming Cao, Yabing Zheng, Hua Yang, Jian Huang, Shaoping Chen, Lu Gan, Xiuli Yang, Yuru Chen, Quchang Ouyang, Xiaojia Wang","doi":"10.1515/jtim-2024-0022","DOIUrl":"https://doi.org/10.1515/jtim-2024-0022","url":null,"abstract":"<p><strong>Objective: </strong>We aimed to investigate the pharmacokinetics, safety, efficacy, and immunogenicity of different dosing regimens (weekly and every three weeks) of inetetamab in combination with vinorelbine in human epidermal growth factor receptor 2 (HER2)+ patients with metastatic breast cancer who had received one or more chemotherapy regimens.</p><p><strong>Methods: </strong>HER2+ patients with metastatic breast cancer who had received one or more chemotherapy regimens were included. Eligible patients received inetetamab administered weekly or every three weeks in combination with vinorelbine injection chemotherapy. Pharmacokinetics, safety, efficacy, and immunogenicity were compared between the groups.</p><p><strong>Results: </strong>Sixty HER2+ patients were randomized into a single-week administration group ( <i>n</i> = 29) and a three-week administration group ( <i>n</i> = 31). After the final dose in the single-week administration group and the three-week administration group, the mean C_max values were 79.773 μg/mL and 146.083 μg/mL; the mean C_min values were 30.227 μg/mL and 11.926 μg/mL; the mean AUC_tau values were 7328.443 μg·h/mL and 22647.101 μg·h/mL; and the mean C_av values were 43.622 μg/ mL and 44.935 μg/mL, respectively. The best overall response (BOR) rates at 24 weeks and unconfirmed BOR rates at 24 weeks were both 40.7% in the single-week dosing group and 40.7% in the three-week dosing group, and the 24-week confirmed disease control rates (DCRs) were 88.9% and 81.5%, respectively. The incidence of adverse events (AEs) was generally consistent across all levels.</p><p><strong>Conclusion: </strong>There were slight differences in the mean C_max, C_min, AUC_tau and C_av between the three-week dosing group and the single-week dosing group, and the mean steady-state concentrations of C_av were comparable; however, there were no differences in efficacy, safety or immunogenicity between the two groups.</p>","PeriodicalId":51339,"journal":{"name":"Journal of Translational Internal Medicine","volume":"12 5","pages":"466-477"},"PeriodicalIF":4.7,"publicationDate":"2024-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11538898/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142606854","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Actin-related protein 2/3 complex subunit 1B promotes ovarian cancer progression by regulating the AKT/PI3K/mTOR signaling pathway.","authors":"Miao Ke, Huimin Zhu, Yu Lin, Ying Zhang, Tao Tang, Yuhao Xie, Zhe-Sheng Chen, Xiaoyu Wang, Yuan Shen","doi":"10.2478/jtim-2024-0025","DOIUrl":"10.2478/jtim-2024-0025","url":null,"abstract":"<p><strong>Background and objectives: </strong>Actin-related protein 2/3 complex subunit 1B (ARPC1B) is an essential subunit of the actin-related protein 2/3 (Arp2/3) complex. While there have been numerous research reports on Arp2/3 in relation to tumors, there needs to be more research on ARPC1B and its role in tumors, particularly at the pan-cancer level.</p><p><strong>Methods: </strong>Utilizing data from the cancer genome atlas (TCGA) and genotype-tissue expression (GTEx) databases, we analyzed ARPC1B expression differences in normal, tumor, and adjacent tissues, investigating its correlation with prognosis and clinical stages in various cancers. We conducted gene enrichment analysis and explored ARPC1B's connection to the tumor immune microenvironment and its impact on anti-tumor drug resistance. In addition, <i>in vivo</i> and <i>in vitro</i> experiments have also been carried out to find the mechanism of ARPC1B on ovarian cancer (OV) proliferation and invasion.</p><p><strong>Results: </strong>ARPC1B was highly expressed in 33 tumor types, suggesting its role as a tumor-promoting factor. Its expression correlated with poor prognosis and served as a clinical staging marker in over 10 tumor types. ARPC1B is implicated in various biological processes and signaling pathways, uniquely associated with tumor immunity, indicating immunosuppressive conditions in high-expression cases. High ARPC1B expression was linked to resistance to six anti-tumor drugs. Further experiments showed that ARPC1B can affect the proliferation, apoptosis, migration, and invasion of OV cells through the AKT/PI3K/mTOR pathway.</p><p><strong>Conclusion: </strong>ARPC1B is a biomarker for immune suppression, prognosis, clinical staging, and drug resistance, providing new insights for cancer therapeutics.</p>","PeriodicalId":51339,"journal":{"name":"Journal of Translational Internal Medicine","volume":"12 4","pages":"406-423"},"PeriodicalIF":4.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11444474/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142367386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of functional heterogeneity of immune cells and tubular-immune cellular interplay action in diabetic kidney disease.","authors":"Yunfeng Bai, Kun Chi, Delong Zhao, Wanjun Shen, Ran Liu, Jing Hao, Guangyan Cai, Xiangmei Chen, Quan Hong","doi":"10.2478/jtim-2023-0130","DOIUrl":"10.2478/jtim-2023-0130","url":null,"abstract":"<p><strong>Background: </strong>Renal inflammation plays key roles in the pathogenesis of diabetic kidney disease (DKD). Immune cell infiltration is the main pathological feature in the progression of DKD. Sodium glucose cotransporter 2 inhibitor (SGLT2i) were reported to have antiinflammatory effects on DKD. While the heterogeneity and molecular basis of the pathogenesis and treatment with SGLT2i in DKD remains poorly understood.</p><p><strong>Methods: </strong>To address this question, we performed a single-cell transcriptomics data analysis and cell cross-talk analysis based on the database (GSE181382). The single-cell transcriptome analysis findings were validated using multiplex immunostaining.</p><p><strong>Results: </strong>A total of 58760 cells are categorized into 25 distinct cell types. A subset of macrophages with anti-inflammatory potential was identified. We found that Ccl3+ (S100a8/a9 high) macrophages with anti-inflammatory and antimicrobial in the pathogenesis of DKD decreased and reversed the dapagliflozin treatment. Besides, dapagliflozin treatment enhanced the accumulation of Pck1+ macrophage, characterized by gluconeogenesis signaling pathway. Cell-cross talk analysis showed the GRN/SORT1 pair and CD74 related signaling pathways were enriched in the interactions between tubular epithelial cells and immune cells.</p><p><strong>Conclusions: </strong>Our study depicts the heterogeneity of macrophages and clarifies a new possible explanation of dapagliflozin treatment, showing the metabolism shifts toward gluconeogenesis in macrophages, fueling the anti-inflammatory function of M2 macrophages, highlighting the new molecular features and signaling pathways and potential therapeutic targets, which has provided an important reference for the study of immune-related mechanisms in the progression of the disease.</p>","PeriodicalId":51339,"journal":{"name":"Journal of Translational Internal Medicine","volume":"12 4","pages":"395-405"},"PeriodicalIF":4.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11444470/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142367388","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recognition of differently expressed genes and DNA methylation markers in patients with Lupus nephritis.","authors":"Zhenjie Liu, Fengxun Liu, Junwei Xie, Zihao Zhao, Shaokang Pan, Dongwei Liu, Zongping Xia, Zhangsuo Liu","doi":"10.2478/jtim-2024-0013","DOIUrl":"10.2478/jtim-2024-0013","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background and objectives: &lt;/strong&gt;Systemic lupus erythematosus (SLE) is distinguished by dysregulated immune system activity, resulting in a spectrum of clinical manifestations, with lupus nephritis being particularly prominent. This study endeavors to discern novel targets as potential therapeutic markers for this condition.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;Weighted correlation network analysis (WGCNA) was used to construct the network and select the key hub genes in the co-expression module based on the gene expression dataset GSE81622. Subsequently, functional enrichment and pathway analysis were performed for SLE and lupus nephritis. In addition, also identify genes and differences in SLE with lupus nephritis and methylation site. Finally, qRT-PCR and western blot were used to verify the up-regulated expression levels of the selected key genes.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Within the co-expression modules constructed by WGCNA, the MElightcyan module exhibited the strongest positive correlation with lupus nephritis (0.4, &lt;i&gt;P&lt;/i&gt; = 0.003), while showing a weaker correlation with the control group SLE (0.058) and a negative correlation with the control group (-0.41, &lt;i&gt;P&lt;/i&gt; = 0.002). Additionally, the MEgreenyellow module displayed the highest positive correlation with SLE (0.25), but its P value was 0.06, which did not reach statistical significance(P &gt; 0.05). Furthermore, it had a negative correlation with the control group was (-0.38, &lt;i&gt;P&lt;/i&gt; = 0.004). The module associated with lupus nephritis was characterized by processes such as neutrophil activation (neutrophil_activation), neutrophil degranulation (neutrophil_degranulation), neutrophil activation involved in immune response (neutrophil_activation_involved_in_immune_response), neutrophils mediated immune (neutrophil_mediated_immunity) and white blood cells degranulation (leukocyte_degranulation) and so on the adjustment of the process. Secondly, in the analysis of SLE samples, the identification of differentially expressed genes revealed 125 genes, with 49 being up-regulated and 76 down-regulated. In the case of lupus nephritis samples, 156 differentially expressed genes were discerned, include in 70 up-regulated and 86 down-regulated genes. When examining differential methylation sites, we observed 12432 such sites in the SLE sample analysis, encompassing 2260 hypermethylation sites and 10172 hypomethylation sites. In the lupus nephritis samples analysis, 9613 differential methylation sites were identified, comprising 4542 hypermethylation sites and 5071 hypomethylation sites. Substantiating our findings, experimental validation of the up-regulated genes in lupus nephritis confirmed increased levels of gene expression and protein expression for CEACAM1 and SLC2A5.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusions: &lt;/strong&gt;We have identified several genes, notably CEACAM1 and SLC2A5, as potential markers for lupus nephritis. Their elevated expression levels and reduced DNA methylation in lupu","PeriodicalId":51339,"journal":{"name":"Journal of Translational Internal Medicine","volume":"12 4","pages":"367-383"},"PeriodicalIF":4.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11444471/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142367391","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Machine learning-based phenogroups and prediction model in patients with functional gastrointestinal disorders to reveal distinct disease subsets associated with gas production.","authors":"Lingling Zhu, Shuo Xu, Huaizhu Guo, Siqi Lu, Jiaqi Gao, Nan Hu, Chen Chen, Zuojing Liu, Xiaolin Ji, Kun Wang, Liping Duan","doi":"10.2478/jtim-2024-0009","DOIUrl":"10.2478/jtim-2024-0009","url":null,"abstract":"<p><strong>Background and objectives: </strong>Symptom-based subtyping for functional gastrointestinal disorders (FGIDs) has limited value in identifying underlying mechanisms and guiding therapeutic strategies. Small intestinal dysbiosis is implicated in the development of FGIDs. We tested if machine learning (ML) algorithms utilizing both gastrointestinal (GI) symptom characteristics and lactulose breath tests could provide distinct clusters.</p><p><strong>Materials and methods: </strong>This was a prospective cohort study. We performed lactulose hydrogen methane breath tests and hydrogen sulfide breath tests in 508 patients with GI symptoms. An unsupervised ML algorithm was used to categorize subjects by integrating GI symptoms and breath gas characteristics. Generalized Estimating Equation (GEE) models were used to examine the longitudinal associations between cluster patterns and breath gas time profiles. An ML-based prediction model for identifying excessive gas production in FGIDs patients was developed and internal validation was performed.</p><p><strong>Results: </strong>FGIDs were confirmed in 300 patients. K-means clustering identified 4 distinct clusters. Cluster 2, 3, and 4 showed enrichments for abdominal distention and diarrhea with a high proportion of excessive gas production, whereas Cluster 1 was characterized by moderate lower abdominal discomforts with the most psychological complaints and the lowest proportion of excessive gas production. GEE models showed that breath gas concentrations varied among different clusters over time. We further sought to develop an ML-based prediction model to determine excessive gas production. The model exhibited good predictive capabilities.</p><p><strong>Conclusion: </strong>ML-based phenogroups and prediction model approaches could provide distinct FGIDs subsets and efficiently determine FGIDs subsets with greater gas production, thereby facilitating clinical decision-making and guiding treatment.</p>","PeriodicalId":51339,"journal":{"name":"Journal of Translational Internal Medicine","volume":"12 4","pages":"355-366"},"PeriodicalIF":4.7,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11444472/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142367389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}